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Gene: Grhl3 MGI:2655333

Gene Summary

Name:

grainyhead like transcription factor 3

Synonyms:

ct, Som, Get1

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.22×10^-05
increased circulating calcium level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.60×10^-05
increased circulating phosphate level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.67×10^-07
abnormal retina morphology	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.66×10^-05
decreased blood urea nitrogen level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.92×10^-06
decreased circulating triglyceride level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.71×10^-06
decreased circulating alkaline phosphatase level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.28×10^-10
increased startle reflex	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.48×10^-06
abnormal locomotor activation	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.77×10^-06
increased circulating amylase level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.58×10^-05
increased circulating glucose level	Grhl3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.76×10^-07
preweaning lethality, complete penetrance	Grhl3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00

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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 Grhl3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Grhl3 (4 diseases)
Human diseases predicted to be associated with Grhl3 (1447 diseases)

The table below shows human diseases associated to Grhl3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772

The table below shows human diseases predicted to be associated to Grhl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Syngnathia	Cleft palate	OMIM:119550
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Hyperkeratosis, Scaling skin	OMIM:617571
Congenital Herpes Simplex Virus Infection	Microcephaly, Hydranencephaly	ORPHA:293
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Psoriasis 2	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin	OMIM:113800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin	OMIM:620148
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,...	ORPHA:530838
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Peeling Skin Syndrome 6	Parakeratosis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da...	OMIM:617967
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Palmoplan...	OMIM:620507
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Palmop...	ORPHA:2198
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Craniofacial Conodysplasia	Hydrocephalus, Spinal cord compression	ORPHA:85168
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:94090
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Anencephaly 2	Anencephaly	OMIM:619452
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Scaling skin, Epidermal acanth...	OMIM:612281
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis	ORPHA:2269
Diprosopus	Anencephaly	ORPHA:1681
Pierre Robin Syndrome And Oligodactyly	Cleft palate, Pierre-Robin sequence	OMIM:172880
Schisis Association	Microcephaly, Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin	OMIM:607602
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Caudal Duplication	Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ...	ORPHA:1756
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Epidermal acanthosis	OMIM:604777
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Blue Diaper Syndrome	Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia	ORPHA:94086
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Spina bifida	ORPHA:64754
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, P...	ORPHA:79395
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Scaling skin	ORPHA:263534
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hy...	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Microcephaly, Hydranencephaly	OMIM:601355
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis	ORPHA:735
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, ...	OMIM:616295
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Spina bifida, A...	ORPHA:2345
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Megaepiphyseal Dwarfism	Cleft palate	OMIM:249230
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Ichthyosis Vulgaris	Dry skin, Absent keratohyalin granules	OMIM:146700
Adamantinoma	Hypercalcemia	ORPHA:55881
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasi...	ORPHA:1908
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb...	OMIM:601216
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcepha...	ORPHA:2570
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis	OMIM:613943
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:605013
Bazex Syndrome	Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin	ORPHA:166113
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation	OMIM:603194
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Distal Deletion 13Q	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Holoprosencephaly, Anence...	ORPHA:1590
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Idiopathic Localized Lipodystrophy	Erythema, Scaling skin	ORPHA:90158
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis	OMIM:617525
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Follicular hyperkeratosis, Erythema	ORPHA:79100
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly	OMIM:611561
Myopathy, Tubular Aggregate, 2	Falls, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Bleeding with minor or no trauma, Recurrent skin infections,...	ORPHA:79503
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology	ORPHA:79147
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebe...	OMIM:225790
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Spondylosis, Cervical	Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis	OMIM:184300
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis	OMIM:101850
Bathing Suit Ichthyosis	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin	ORPHA:100976
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Contact dermatitis, Acn...	ORPHA:3406
Dermatoleukodystrophy	Hyperkeratosis	ORPHA:1659
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Mal De Meleda	Nonepidermolytic palmoplantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Ery...	ORPHA:87503
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Ataxia, Macular degeneration, Increased ...	ORPHA:48818
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, E...	OMIM:300918
Acrokeratosis Verruciformis	Acantholysis, Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Generalized hyperkeratosis	OMIM:133200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Scaling skin, Hyperkeratosis, Dry skin	OMIM:614457
Sprengel Deformity	Cleft palate	ORPHA:3181
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Epiderma...	ORPHA:2199
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Meckel Syndrome, Type 10	Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Anencephaly	OMIM:614175
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase	ORPHA:99845
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:94089
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Sparse eyebrow, Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Death...	OMIM:605676
Parc Syndrome	Cleft palate	OMIM:600331
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Hyperglycemia, Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase	OMIM:604484
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis	OMIM:236660
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Scaling skin	OMIM:604536
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Acantholysis, Pr...	ORPHA:555905
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Anophthalmia Plus Syndrome	Spina bifida, Vertebral segmentation defect	ORPHA:1104
Joubert Syndrome 15	Exencephaly	OMIM:614464
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Psoriasiform lesion, Scaling skin	ORPHA:284426
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Cleft upper lip	OMIM:600251
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Retinopathy, Hyperuricemia, Angioid streaks of the fundus, Retinal degeneratio...	OMIM:239000
Hydrolethalus	Absent septum pellucidum, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Palmoplantar keratoderma, Hyperkeratosis	ORPHA:312
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus	OMIM:612526
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy	OMIM:617270
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Hyperkeratosis	OMIM:610227
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis	OMIM:211900
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma	OMIM:620415
Iniencephaly	Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Hydrocephalus, ...	ORPHA:63259
Ichthyosis With Confetti	Palmoplantar hyperkeratosis, Scaling skin	OMIM:609165
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Ataxia, Hyperglycemia, Optic disc pallor, Retinal thinning	OMIM:618970
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Centrifugal Lipodystrophy	Erythema, Scaling skin	ORPHA:90156
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:94080
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Agitation	OMIM:617171
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Atopic dermatitis, Diarrhea, Vomiting, Ascites, Malabso...	ORPHA:2070
Hypochondroplasia	Lumbar hyperlordosis, Widened interpedicular distance	OMIM:146000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte...	OMIM:271630
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Cerebellar hypoplasia, Hydranencephaly, Hypoplasia of the brainstem	OMIM:236500
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Spina bifida, Abnormal form of the vertebral bodies, Sacral dimple	ORPHA:1327
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis, Pruritus, Enlargement of parotid gland	OMIM:124200
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:3219
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Retinal calcification	OMIM:127000
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Palmoplantar keratoderma, Scaling skin	OMIM:618373
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Superficial Epidermolytic Ichthyosis	Acantholysis, Palmoplantar keratoderma, Edema	ORPHA:455
Pemphigus Foliaceus	Erythema, Acantholysis, Skin vesicle, Scaling skin	ORPHA:79481
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Psoriasiform dermatitis, Malabsorption, Eosinophilic in...	OMIM:615508
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula...	OMIM:602557
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive behavior, Hyperke...	OMIM:247100
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Dilated cardiomyopathy, Conge...	OMIM:601214
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Cerebral calcification, Porencephalic cyst, Microcephaly, Spin...	ORPHA:1393
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon...	ORPHA:93352
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal a...	OMIM:148700
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Intellectual Developmental Disorder, Autosomal Dominant 72	Short neck, Spina bifida	OMIM:620439
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608636
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregular vertebr...	OMIM:618395
Sprengel Deformity	Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae	OMIM:184400
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Peeling Skin Syndrome 1	Scaling skin	OMIM:270300
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Scaling skin	OMIM:609180
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Waardenburg Syndrome Type 1	Telecanthus, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyebrow, Spina bifida, White eye...	ORPHA:894
Masa Syndrome	Hydrocephalus, Kyphosis, Hyperlordosis	OMIM:303350
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage, Horner syndrome	OMIM:106070
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper...	ORPHA:251992
Isolated Hemihyperplasia	Myelomeningocele, Scoliosis	ORPHA:2128
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp	ORPHA:428
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu...	ORPHA:94093
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Agenesi...	OMIM:615287
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Unsteady ...	OMIM:520000
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse...	OMIM:602540
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Acute Radiation Syndrome	Hyperkeratosis, Skin ulcer, Scaling skin	ORPHA:454831
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Cutaneous Mastocytoma	Erythema, Scaling skin	ORPHA:79455
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Pemphigus Vulgaris	Acantholysis, Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Feeding dif...	ORPHA:704
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Absent eyelashes, Absent eyebrow, Impaired my...	ORPHA:158687
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615022
Vulvovaginal Gingival Syndrome	Parakeratosis, Epidermal acanthosis, Erythema	ORPHA:83453
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties	OMIM:620368
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Hypophosphatasia	Hypercalcemia	ORPHA:436
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Classic Mycosis Fungoides	Erythema, Hyperkeratosis, Skin ulcer, Dry skin	ORPHA:2584
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Raynaud phenomen...	ORPHA:90280
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level	OMIM:618856
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo...	OMIM:243150
Acute Generalized Exanthematous Pustulosis	Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Lichen Planopilaris	Abnormal intestine morphology, Pruritus, Hyperkeratosis, Pterygium	ORPHA:525
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Macular...	ORPHA:251004
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Congenital Factor V Deficiency	Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo...	ORPHA:326
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Czeizel-Losonci Syndrome	Myelomeningocele, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L...	ORPHA:240094
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5	OMIM:102510
Winchester Syndrome	Kyphosis	OMIM:277950
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pemphigus Erythematosus	Acantholysis, Malar rash	ORPHA:79480
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Pruritus, Abnormal bleeding, Malabsorption	ORPHA:79301
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Occipital meningocele,...	OMIM:616546
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep...	OMIM:619208
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Myelomeningocele, Abnormal vertebral s...	ORPHA:66637
2P21 Microdeletion Syndrome	Hypocalcemia, Hypoglycemia	ORPHA:163693
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkerat...	OMIM:615522
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly	ORPHA:99742
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Pleural effusion, Constrictive pericar...	OMIM:602248
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Posterior scalloping of vertebral bodies, Caudal interpedicular narrowing, Sco...	OMIM:603546
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Adducted Thumbs Syndrome	High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate	OMIM:201550
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Vertebral segmentation defect	ORPHA:1120
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis	ORPHA:38
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Abdominal...	ORPHA:537
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Abdominal pain...	ORPHA:36426
Schneckenbecken Dysplasia	Platyspondyly, Umbilical hernia, Narrow vertebral interpedicular distance, Short neck, Ovoid vert...	OMIM:269250
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615024
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Warty Dyskeratoma	Abnormal bleeding, Acantholysis, Neoplasm of the tongue	ORPHA:69745
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Agenesis of corpus callosum, Microcephaly, Anencephaly, Dandy-Walker malformation	OMIM:619148
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Tethered cord, Hydromyelia, Myelomeningocele, Myeloschisis, Back pain, Hyd...	OMIM:600145
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Kera...	ORPHA:779
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Neonatal death	OMIM:609638
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Palmoplantar keratoderma, Eczematoid dermatitis, Malab...	ORPHA:2796
Parietal Foramina 1	Cleft palate, Encephalocele, Cleft upper lip	OMIM:168500
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele	ORPHA:1335
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Chronic diarr...	OMIM:142680
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ...	OMIM:231200
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in...	ORPHA:2635
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Retinal calcification, Hypocalcemic seizures	ORPHA:93325
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemi...	ORPHA:79444
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Waddling gait	OMIM:156400
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Kyphosis, Neonatal death	OMIM:618237
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Neonatal death, Short neck, Paucity of anterior horn moto...	OMIM:611890
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Abdominal distention, Dehydration	ORPHA:103910
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Hyperkeratosis	ORPHA:163525
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Highly arched eyebrow, Umbilical hernia, Downslanted palpebral fissures, Tel...	OMIM:613776
Osteogenesis Imperfecta	Cervical kyphosis, Abnormal form of the vertebral bodies, Umbilical hernia, Enlarged vertebral pe...	ORPHA:666
Diabetic Embryopathy	Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebral segmentation defect	ORPHA:1926
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit...	OMIM:613670
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate	OMIM:600776
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Brachyolmia Type 3	Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis	OMIM:113500
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Short neck, Scoliosis, Spina bifida	OMIM:616038
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Ascites, Hypertrophic car...	ORPHA:464321
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	ORPHA:79151
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Akinesia, Truncal ataxia, Hyperalaninemia, Optic disc pallor, Optic neuropathy, Ch...	OMIM:618249
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis, Neonatal death	OMIM:618393
Lichen Planus Pemphigoides	Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:616756
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Neopla...	ORPHA:2869
Spinal Cord Injury	Hypercalcemia, Allodynia	ORPHA:90058
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Cystinosis	Type I diabetes mellitus, Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance	ORPHA:213
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortis...	ORPHA:199299
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Vertebral segmentation de...	ORPHA:261318
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia, Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Vacterl/Vater Association	Occipital encephalocele, Anencephaly	ORPHA:887
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemi...	ORPHA:79443
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a...	ORPHA:391411
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow vertebral interpedicular distance, Short neck, Scoliosis	OMIM:620073
Alagille Syndrome	Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ...	ORPHA:52
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Butterfly vertebrae, Tethered cord, Spinal dysraphism	OMIM:617660
Bleeding Disorder, Platelet-Type, 22	Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive...	OMIM:618462
Acute Adrenal Insufficiency	Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hy...	ORPHA:95409
Dracunculiasis	Skin ulcer	ORPHA:231
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:276621
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage	OMIM:277175
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:2181
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Arrhythmia, Constipation, Abdominal ...	ORPHA:99745
Hall-Riggs Syndrome	Platyspondyly, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate	OMIM:616898
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Sp...	ORPHA:3412
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Trisomy 18	Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifida, Holoprosencephaly, Anencep...	ORPHA:3380
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh...	OMIM:620014
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Myhre Syndrome	Platyspondyly, Vertebral fusion, Enlarged vertebral pedicles, Short neck	OMIM:139210
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Parkinson Disease 17	Akinesia, Resting tremor, Tremor	OMIM:614203
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior	OMIM:619150
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Hyperkeratosis	ORPHA:281090
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Mednik Syndrome	Abnormal intestine morphology, Hyperkeratosis	ORPHA:171851
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Reduced cerebral white matter volume, Polymicrogyria, Periventricular cysts, Bas...	OMIM:620371
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets, Glycosuria	OMIM:618913
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride...	ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ...	ORPHA:552
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath...	ORPHA:79430
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func...	ORPHA:79319
Sandhoff Disease	Kyphosis	ORPHA:796
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia	OMIM:101800
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:129200
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne...	ORPHA:44890
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Abnormal spinal cord morpho...	ORPHA:2369
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Achondroplasia	Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Hydrocephal...	OMIM:100800
Limited Cutaneous Systemic Sclerosis	Dysphagia, Skin ulcer	ORPHA:220402
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia	OMIM:619911
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Difficulty walking, Antalgic gait, Hypophosphatemia, Hyperc...	ORPHA:249
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Partial agen...	ORPHA:101030
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia	OMIM:605911
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Tylosis With Esophageal Cancer	Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Hypercalcemia, Tremor	ORPHA:476126
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Monosomy 13Q34	Insulin resistance, Hypercalcemia	ORPHA:96168
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus	OMIM:222100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Lymphedema, Hyperlipidemia, Portal hypertension, Nausea and vomiting...	ORPHA:1414
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Dystonia, Intention tremor, Progress...	OMIM:607454
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid...	ORPHA:873
Jacobsen Syndrome	Aortic valve stenosis, Eczematoid dermatitis, Downslanted palpebral fissures, Intestinal malrotat...	ORPHA:2308
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Macular degeneration, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, ...	ORPHA:247234
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Palmoplantar keratoderma, Parakeratosis, Syncope, Ventricular tachycardia...	OMIM:615821
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Sparse eyebrow, Inflammatory abnormality of the skin...	OMIM:610768
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis, Kyphoscoliosis	OMIM:618339
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia	ORPHA:98773
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Buerger Disease	Skin ulcer	ORPHA:36258
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Ascites, Portal hypertension, Gastric varix, Prol...	ORPHA:64743
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Glycosuria	OMIM:308990
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Umbilical hernia, Intrauterine growth retardation, Vertebr...	ORPHA:2311
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Scoliosis, Tethered cord	OMIM:612918
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis	ORPHA:209981
Vohwinkel Syndrome, Variant Form	Parakeratosis, Orthokeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Mpdu1-Cdg	Scaling skin	ORPHA:79323
Basal Cell Nevus Syndrome 1	Vertebral wedging, Kyphoscoliosis, Spina bifida, Hemivertebrae, Hydrocephalus, Vertebral fusion, ...	OMIM:109400
Wildervanck Syndrome	Short neck, Meningocele, Fused cervical vertebrae	ORPHA:3456
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Bamforth-Lazarus Syndrome	Cleft palate	OMIM:241850
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Acromesomelic Dysplasia 1	Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o...	OMIM:602875
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr...	ORPHA:98878
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:29072
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level, Hypoglycemia	OMIM:131100
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis	OMIM:230650
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocephalus, Stillbirth, Aq...	OMIM:276950
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortis...	ORPHA:85138
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne...	OMIM:184100
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Internal hemo...	ORPHA:90308
Acrogeria	Skin ulcer, Excessive wrinkled skin	ORPHA:2500
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype...	ORPHA:466650
Microphthalmia, Syndromic 8	Orofacial cleft, Cleft palate, Widely-spaced maxillary central incisors, Cleft upper lip	OMIM:601349
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, ...	ORPHA:363705
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral...	OMIM:271510
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Edema, Duodenal polyposis, Multiple gastric polyps, Small intest...	ORPHA:329971
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia	ORPHA:681
Zygomycosis	Diarrhea, Ileitis, Pustule, Periorbital edema, Abdominal pain, Gastrointestinal hemorrhage, Unusu...	ORPHA:73263
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro...	ORPHA:100082
Corticobasal Syndrome	Akinesia, Limb dystonia, Tremor, Gait disturbance, Dystonia	ORPHA:454887
Diffuse Cutaneous Mastocytosis	Scaling skin	ORPHA:79456
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Menorrhagia,...	ORPHA:324636
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis, Hyperkeratosis	ORPHA:816
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Ascites, Malabsorpt...	ORPHA:98850
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2521
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern...	ORPHA:99886
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi...	ORPHA:679
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Ectropion	OMIM:173200
Ichthyosis, Congenital, Autosomal Recessive 9	Ectropion, Erythroderma, Orthokeratosis, Hyperkeratosis	OMIM:615023
Blepharocheilodontic Syndrome 1	Euryblepharon, Distichiasis, Ectropion of lower eyelids, Anal atresia, Neural tube defect, Lagoph...	OMIM:119580
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Dry skin, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Short-Rib Thoracic Dysplasia 12	Holoprosencephaly, Anencephaly, Hydrocephalus	OMIM:269860
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Vertebral arch anomaly	ORPHA:85184
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Pruritus, Hyperkeratosis, Blepharitis	OMIM:602400
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Mucopolysaccharidosis, Type Iva	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Lumbar kyphosis, Short ne...	OMIM:253000
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Epicanthus, Hyperkeratosis, Pedal edema	ORPHA:79452
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Difficulty walking, Hypophosphatemia, Hypocalcemia	OMIM:600081
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Mosaic Trisomy 9	Intestinal malrotation, Oligohydramnios, Upslanted palpebral fissure, Spina bifida, Polyhydramnio...	ORPHA:99776
Recon Progeroid Syndrome	Dry skin, Scaling skin	OMIM:620370
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple	ORPHA:2064
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	OMIM:218030
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small ...	ORPHA:2929
Hemifacial Microsomia With Radial Defects	Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami	OMIM:141400
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Pde4D Haploinsufficiency Syndrome	Caudal interpedicular narrowing, Irregular vertebral endplates	ORPHA:439822
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Short neck, Kyphoscoliosis	OMIM:109500
Burkitt Lymphoma	Abdominal pain, Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction	ORPHA:543
Waardenburg Syndrome, Type 1	Myelomeningocele, Supernumerary vertebrae, Spina bifida	OMIM:193500
Phakomatosis Pigmentokeratotica	Scoliosis, Spina bifida	ORPHA:2874
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Koolen-De Vries Syndrome Due To A Point Mutation	Short palpebral fissure, Dural ectasia, Eczematoid dermatitis, Cardiomyopathy, Upslanted palpebra...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Short palpebral fissure, Dural ectasia, Eczematoid dermatitis, Cardiomyopathy, Upslanted palpebra...	ORPHA:363958
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis, Hyperkeratosis	ORPHA:1883
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Joint swelling, Gast...	ORPHA:809
Hereditary Mixed Polyposis Syndrome	Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci...	ORPHA:157794
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele	ORPHA:1759
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Dry skin, Facial erythema, Palmoplantar keratoderma, Scaling skin	ORPHA:1010
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Radiation Proctitis	Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Anasarca, Ascites, Pleural effusion...	OMIM:618183
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs...	ORPHA:131
Cloacal Exstrophy	Myelomeningocele, Spina bifida, Hemivertebrae	ORPHA:93929
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d...	OMIM:613686
Meckel Syndrome	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Anencephal...	ORPHA:564
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis	OMIM:176920
Nail-Patella Syndrome	Lumbar hyperlordosis, Scoliosis, Back pain, Spina bifida	OMIM:161200
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypocalcemia	OMIM:606407
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Difficulty walking, Hypophosphatemia, Hypophosphatemi...	OMIM:241530
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria	ORPHA:2089
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Encephalocele, Pulmonary arterial hype...	ORPHA:974
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Bruising susceptibility, Downslanted palpebral fissures, Congestive ...	OMIM:225400
Immunodeficiency 58	Psoriasiform lesion, Dysphagia, Scaling skin	OMIM:618131
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ...	ORPHA:275864
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Arrhythmi...	ORPHA:906
Cartilage-Hair Hypoplasia	Narrow vertebral interpedicular distance, Lumbar hyperlordosis, Hypoplasia of the odontoid proces...	OMIM:250250
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Nausea, Melena, Abdominal pai...	ORPHA:319218
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
22Q11.2 Deletion Syndrome	Epicanthus, Feeding difficulties in infancy, Anal atresia, Purpura, Bowel incontinence, Gastroint...	ORPHA:567
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:183900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:48431
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac...	OMIM:227810
Intellectual Developmental Disorder, Autosomal Dominant 26	Intrauterine growth retardation, Scoliosis, Kyphosis, Umbilical hernia	OMIM:615834
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:93160
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Necrobiosis Lipoidica	Erythema, Skin ulcer	ORPHA:542592
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency, Motor stereotypy	ORPHA:529965
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Ulnar Hemimelia	Scoliosis, Butterfly vertebrae, Spinal dysraphism	ORPHA:93320
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Glycosuria	OMIM:134600
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart failure, Subcutane...	ORPHA:727
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Esophageal varix	OMIM:617341
Neu-Laxova Syndrome	Bifid uvula, Pterygium, Submucous cleft hard palate, Abnormal nasolacrimal system morphology, Abn...	ORPHA:2671
Thanatophoric Dysplasia Type 2	Platyspondyly, Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis	ORPHA:93274
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Gastrointestinal infarctions, Skin rash, Prolonged bleeding time	ORPHA:1059
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin	ORPHA:35173
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
20Q13.33 Microdeletion Syndrome	Hematochezia, Highly arched eyebrow, Downslanted palpebral fissures, Oligohydramnios, Upslanted p...	ORPHA:261311
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Spinal cord compression, Hyperlordosis, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter	OMIM:618718
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
Congenital Myopathy 12	Abnormal circulating creatine kinase concentration, Akinesia	OMIM:612540
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Malabsorption, Hydrocephalus, Anorexia, Myoca...	ORPHA:3452
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Eczematoid dermatitis,...	OMIM:615895
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio...	ORPHA:85450
Leishmaniasis	Pallor, Skin ulcer, Anorexia	ORPHA:507
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Meckel Syndrome, Type 1	Cerebral hypoplasia, Occipital encephalocele, Large placenta, Agenesis of corpus callosum, Cerebe...	OMIM:249000
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Myopathy, Centronuclear, 2	Kyphosis, Intrauterine growth retardation, Scoliosis, Hyperlordosis	OMIM:255200
Reticular Dysgenesis	Skin ulcer	ORPHA:33355
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ...	OMIM:307800
Porphyria Cutanea Tarda	Addictive alcohol use, Scaling skin	ORPHA:101330
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Mhc Class I Deficiency 1	Skin ulcer	OMIM:604571
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi...	OMIM:174900
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy	OMIM:600795
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, Dystonia	ORPHA:240071
Dubin-Johnson Syndrome	Abdominal pain, Abnormal gastric mucosa morphology	ORPHA:234
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neovascularization, Keratoconjunctivi...	OMIM:158310
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Umbilical hernia	OMIM:618272
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin	OMIM:606367
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont...	ORPHA:274
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple	OMIM:615761
Timothy Syndrome	Hypocalcemia, Hypoglycemia	OMIM:601005
Ullrich Congenital Muscular Dystrophy	Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:615541
Oncogenic Osteomalacia	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:352540
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept...	OMIM:203300
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Kbg Syndrome	Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Myelopathy, Beaking of vertebral bo...	OMIM:252500
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria	OMIM:618857
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:137834
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Ataxia, Increased circulating renin level	OMIM:619406
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Disinhibition	OMIM:612069
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Skin rash, Hype...	ORPHA:758
Fanconi Anemia	Short palpebral fissure, Meckel diverticulum, Umbilical hernia, Aplasia/Hypoplasia of the uvula, ...	ORPHA:84
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Petechiae, Keratoconjuncti...	ORPHA:91138
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Follicular hyperkeratosis	OMIM:608649
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,...	ORPHA:903
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem...	ORPHA:26793
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Kufor-Rakeb Syndrome	Akinesia, Tremor, Gait disturbance, Torticollis, Ataxia, Dystonia	OMIM:606693
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis	OMIM:618124
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Ollier Disease	Skin ulcer	ORPHA:296
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Thanatophoric Dysplasia	Platyspondyly, Intrauterine growth retardation, Abnormal sacroiliac joint morphology, Hydrocephal...	ORPHA:2655
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Ray...	OMIM:192315
East Syndrome	Hypomagnesemia, Hyperaldosteronism, Difficulty walking, Inability to walk, Action tremor, Hypokal...	ORPHA:199343
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia	ORPHA:53
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Kyphosis, Umbilical hernia	ORPHA:352490
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Abnormality of circulating cortisol level, Decreased circu...	ORPHA:320
Bardet-Biedl Syndrome 9	Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentat...	OMIM:615986
Lateral Meningocele Syndrome	Dural ectasia, Abnormal form of the vertebral bodies, Umbilical hernia, Syringomyelia, Short neck...	ORPHA:2789
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Abno...	ORPHA:85443
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Communicating hydrocephal...	ORPHA:2050
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Angina p...	ORPHA:93672
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Akinesia, Tremor	OMIM:300894
Kid Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis, Scaling skin	ORPHA:477
Hallermann-Streiff Syndrome	High, narrow palate, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Telangiect...	OMIM:234100
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Glycosuria	OMIM:613388
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Malar rash, Petechiae, Eosinophilia	OMIM:603909
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Kyphosis	OMIM:615433
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Vipoma	Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus	ORPHA:97282
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:242300
Polycythemia Vera	Gingival bleeding, Early satiety, Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Bru...	ORPHA:729
Sialidosis Type 2	Kyphosis, Umbilical hernia	ORPHA:87876
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Tip-toe gait, Hypocalcemia, Pigmentary retinopathy	ORPHA:746
Psoriasis 14, Pustular	Parakeratosis, Epidermal acanthosis, Erythema	OMIM:614204
Perry Syndrome	Short stepped shuffling gait, Dystonia, Akinesia, Tremor	OMIM:168605
Somatostatinoma	Steatorrhea, Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus	ORPHA:97283
Microtia, Hearing Impairment, And Cleft Palate	Cleft palate	OMIM:612290
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion	ORPHA:169154
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Graft Versus Host Disease	Scaling skin	ORPHA:39812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Dry skin	OMIM:618527
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyn...	ORPHA:95455
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic hemivertebrae, Thoracic scoliosis, Short neck, Fused cervical vertebrae, Cervical hemive...	ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Prolonged bleeding following circumcision, Death in infancy, Syringomyelia, ...	OMIM:274000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart...	ORPHA:33226
Manganese Poisoning	Dystonia, Gait disturbance, Akinesia, Postural tremor	ORPHA:306682
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hy...	ORPHA:276152
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Optic disc pallor, Retrobulbar optic neuritis, Tremor	OMIM:619737
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple	OMIM:618291
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Spina bifida, Hemivertebrae, Scoliosis	OMIM:304050
Pilarowski-Bjornsson Syndrome	Dermal translucency, Motor stereotypy	OMIM:617682
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Short umbilical cord, Agenesis of corpus callosum, Cerebellar hy...	OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Ib	Downslanted palpebral fissures, Tricuspid regurgitation, Oligohydramnios, Death in childhood, Neo...	OMIM:614437
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis	OMIM:242100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing	OMIM:618917
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Tremor, Transient hypophosphate...	ORPHA:79102
Bacterial Toxic-Shock Syndrome	Scaling skin, Ecchymosis	ORPHA:36234
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Inflammation of the large intestine, Vasculitis, Bloody diarrhea, Skin rash, Coloni...	OMIM:617718
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Ascites, Abd...	ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Fat malabsorption, Prolonged prothrombin time	OMIM:214950
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Atopic dermatitis, Diarrhea, Vasculitis, Hypertrophic cardiomyo...	OMIM:615846
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Holoprosencephaly	Highly arched eyebrow, Spinal dysraphism, Gastroesophageal reflux, Thick eyebrow, Branchial anoma...	ORPHA:2162
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h...	OMIM:177850
Alg3-Cdg	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral white matter atrophy, Microce...	ORPHA:79321
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556037
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Sacral dimple	ORPHA:2211
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Campomelic Dysplasia	Cervical kyphosis, Hypoplastic cervical vertebrae, Spinal dysraphism, Kyphoscoliosis, Thoracic sc...	OMIM:114290
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hyperlordosis, Cervical s...	OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:606612
Glucagonoma	Steatorrhea, Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus	ORPHA:97280
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Hepatic failure, Diarrhea, Prolonged prothrombin time, Acholic stools, Steatorrhea	OMIM:613812
Lateral Meningocele Syndrome	Dural ectasia, Tethered cord, Umbilical hernia, Biconcave vertebral bodies, Syringomyelia, Short ...	OMIM:130720
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Intrauterine growth retard...	ORPHA:628
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia, Hypoglycemia	OMIM:607143
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Palmoplantar hyperkeratosis, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:617388
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Intrauterine growth retardation, Spina bi...	OMIM:192350
Zollinger-Ellison Syndrome	Hypercalcemia, Increased circulating cortisol level, Increased glucagon level	ORPHA:913
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Lethal Congenital Contracture Syndrome 2	Akinesia, Degenerative vitreoretinopathy	OMIM:607598
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Focal Dermal Hypoplasia	Gastroesophageal reflux, Umbilical hernia, Acute hepatic failure, Telangiectasia of the skin, Spi...	ORPHA:2092
Polyarteritis Nodosa	Erythema, Skin ulcer	ORPHA:767
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperkeratosis	ORPHA:812
Fliedner-Zweier Syndrome	Meningocele, Scoliosis, Kyphosis, Tethered cord	OMIM:620511
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer	OMIM:620443
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Hyperkeratosis	ORPHA:742
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Se...	ORPHA:83617
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia	ORPHA:469
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Spinal cord compression, Cervical inst...	ORPHA:94068
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Skin rash, Punctate vasculitis skin l...	ORPHA:247691
Mitochondrial Dna Depletion Syndrome 11	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor...	ORPHA:440437
Hydroxykynureninuria	Dry skin, Motor stereotypy	ORPHA:79155
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Anencephaly, D...	OMIM:236680
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Intestinal obstruction, Celiac disease, Gastrointestinal eosinophilia, Right...	ORPHA:90363
Takayasu Arteritis	Skin ulcer, Anorexia	ORPHA:3287
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Kyphosis	OMIM:619797
Cartilage-Hair Hypoplasia	Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Abnormally o...	ORPHA:175
Pagod Syndrome	Short stature, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Isolated Agammaglobulinemia	Skin ulcer	ORPHA:229717
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble...	OMIM:187900
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Hypocalcemic Vitamin D-Dependent Rickets	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	ORPHA:289157
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Follicular hyperkeratosis, Scaling skin	ORPHA:158668
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus...	ORPHA:2916
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Difficulty walking, Optic atrophy, Hypocalcemia, Ataxia	OMIM:618476
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Scaling skin	ORPHA:294023
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231632
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Immunodeficiency 114, Folate-Responsive	Skin ulcer	OMIM:620603
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K...	OMIM:143095
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration	ORPHA:411629
Postencephalitic Parkinsonism	Akinesia, Tremor by anatomical site, Resting tremor, Oculogyric crisis	ORPHA:97349
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Scoliosis, Spina bifida	OMIM:162200
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response	OMIM:609541
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Ppoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97278
4Q21 Microdeletion Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:238750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Intrauterine growth retardation, Vertebral segmentation defect, Hyperkeratosis, Scoliosis, Kyphosis	ORPHA:1005
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Papa Syndrome	Skin ulcer	ORPHA:69126
Srd5A3-Cdg	Abnormal sacrum morphology, Palmoplantar keratoderma, Kyphosis	ORPHA:324737
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,...	ORPHA:2298
Juvenile Nephropathic Cystinosis	Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:607155
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Angioedema, Gastrointestinal in...	ORPHA:761
Free Sialic Acid Storage Disease	Skin ulcer	ORPHA:834
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c...	OMIM:187300
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Highly arched eyebrow, Gastroesophageal reflux, Nasolacrimal ...	OMIM:180849
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum	OMIM:616576
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, P...	ORPHA:79501
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Increased serum pyruvate, Hyperalaninemia	OMIM:619147
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Tip-toe gait, Hypoglycemia, Hyperglycemia, Hyperammonemia, Tremor, H...	ORPHA:3008
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Follicula...	OMIM:257980
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Gastroesophageal reflux, Downslanted palpebral fissures, Chronic constipation, Epica...	OMIM:619480
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Riddle Syndrome	Erythema, Scaling skin	ORPHA:420741
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Optic atrophy, Hypoglycemia, Difficulty walking, Gait ataxia, Hyperprolinemia, Hyperalani...	OMIM:620451
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion	OMIM:614700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Na...	ORPHA:99818
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response	ORPHA:320406
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Hydrocephalus, Spin...	ORPHA:15
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis	ORPHA:536516
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Chronic Mucocutaneous Candidiasis	Erythema, Hyperkeratosis, Skin ulcer	ORPHA:1334
Celiac Disease, Susceptibility To, 1	Steatorrhea, Type I diabetes mellitus, Hypocalcemia, Ataxia	OMIM:212750
Fibular Hemimelia	Spina bifida	ORPHA:93323
Parkes Weber Syndrome	Skin ulcer, Scaling skin	ORPHA:90307
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis	ORPHA:464282
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis	OMIM:616069
Congenital Myopathy 9A	Akinesia	OMIM:618822
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Dry skin, Skin ulcer, Scaling skin	ORPHA:2526
Systemic Sclerosis	Intestinal bleeding, Telangiectasia, Recurrent skin infections, Dysphagia, Bowel incontinence, Ab...	ORPHA:90291
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Increased circulating cortisol level...	ORPHA:97261
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
15Q24 Microdeletion Syndrome	Myelomeningocele, Scoliosis, Kyphosis	ORPHA:94065
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Wieacker-Wolff Syndrome	Short neck, Hyperlordosis, Palmar hyperkeratosis, Scoliosis, Kyphosis	OMIM:314580
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Limb dystonia, Resting tremor	OMIM:616840
Pearson Syndrome	Pigmentary retinopathy, Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, ...	ORPHA:699
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Optic atrophy, Laryngeal dystonia, Cherry red spot of the ma...	ORPHA:845
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death	OMIM:615709
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:3191
Ullrich Congenital Muscular Dystrophy 1A	Follicular hyperkeratosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:254090
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer	ORPHA:86884
Lynch Syndrome	Gastrointestinal hemorrhage, Death in early adulthood, Intestinal polyposis, Salivary gland neopl...	ORPHA:144
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Orthokeratosis, Dry skin	OMIM:607626
Dent Disease 1	Hypophosphatemia, Glycosuria	OMIM:300009
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Gastrointest...	OMIM:600376
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral b...	OMIM:230500
Congenital Syphilis	Palmoplantar scaling skin, Purpura, Petechiae	ORPHA:499009
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hypocalcemia	OMIM:259700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Kyphosis, Thoracic scoliosis	OMIM:603387
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3121
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai...	ORPHA:97286
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Glycosuria, Retinal pigmen...	OMIM:219800
Genitopalatocardiac Syndrome	Hydrocephalus, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2075
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp...	OMIM:108300
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral...	ORPHA:900
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia	ORPHA:79095
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Gastrointestinal stroma tumo...	ORPHA:139411
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Hydrocephalus, Abdominal pain, Chy...	ORPHA:538
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Hypertension, Abnormality of t...	ORPHA:91139
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Paralytic ileus, Celiac disease, Hematochezia, Eczematoid dermatitis	OMIM:620565
Dermatoosteolysis, Kirghizian Type	Skin ulcer	ORPHA:1657
Rat-Bite Fever	Scaling skin	ORPHA:31205
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Akinesia, Tremor, Retinal degeneration, Gai...	OMIM:234200
Uruguay Faciocardiomusculoskeletal Syndrome	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:300280
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis, Generalized hyperkeratosis	ORPHA:349
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Dry skin, Anorexia	ORPHA:37
Femoral-Facial Syndrome	Absent vertebra, Dysplastic sacrum, Encephalocele, Spina bifida, Hemivertebrae, Scoliosis	OMIM:134780
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Meige Disease	Cobblestone-like hyperkeratosis, Skin ulcer	ORPHA:90186
Prolidase Deficiency	Petechiae, Skin ulcer	OMIM:170100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Williams Syndrome	Abnormal circulating lipid concentration, Retinal arteriolar tortuosity, Gait imbalance, Type II ...	ORPHA:904
Cole-Carpenter Syndrome 2	Platyspondyly, Hydrocephalus, Kyphosis	OMIM:616294
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Neonatal death, Normal pressure hydrocephalus, Scoliosis, Kyphosis, Spinal ri...	OMIM:620351
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Platyspondyly, Short neck, Hydrocephalus, Cleft vertebral arch, Hyperkeratosis	OMIM:210710
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr...	ORPHA:394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate...	OMIM:253800
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:582
3M Syndrome	Intrauterine growth retardation, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column...	ORPHA:93360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Chronic constipation, Hydrocephalus, Feeding difficulties	OMIM:619575
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis	OMIM:609128
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema	OMIM:608068
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hyperammonemia, Hypoglycemia	OMIM:615453
Neuroendocrine Tumor Of Stomach	Hepatic failure, Hypotension, Right ventricular failure, Lack of bowel sounds, Cardiogenic shock,...	ORPHA:100075
Desbuquois Dysplasia 1	Platyspondyly, Intrauterine growth retardation, Short neck, Hyperlordosis, Scoliosis, Kyphosis	OMIM:251450
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Pelger-Huet Anomaly	Kyphosis, Umbilical hernia	OMIM:169400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Stereotypical body rocking, Bruxism, Facial erythema, Cutis laxa, Scaling ski...	OMIM:619503
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Restrictive Dermopathy	Dermal translucency, Scaling skin, Epidermal hyperkeratosis, Generalized hyperkeratosis	ORPHA:1662
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Spondylolysis, Umbilical hernia, Kyphoscoliosis, Short neck, Spina bifida, Hydroce...	OMIM:304120
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr...	ORPHA:37042
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Exaggerated startle response, Dystonia, Hypernatremia	OMIM:620423
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Typical Nemaline Myopathy	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:171436
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Abnormality of iron homeostasis, Ele...	ORPHA:465508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Recurrent apht...	ORPHA:117
Thanatophoric Dysplasia Type 1	Platyspondyly, Hydrocephalus, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:1860
Isotretinoin Embryopathy-Like Syndrome	Cleft palate	OMIM:243440
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia, Rod-cone dystrophy	ORPHA:2237
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98863
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98855
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Kyphosis	OMIM:619909
Diffuse Cutaneous Systemic Sclerosis	Dysphagia, Skin ulcer	ORPHA:220393
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Raynaud phenomenon, Eryth...	OMIM:613471
Mosaic Trisomy 20	Spinal canal stenosis, Intrauterine growth retardation, Vertebral segmentation defect, Abnormal s...	ORPHA:1724
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Ascites, Acute hepatic failure, Hypertrophic cardio...	OMIM:276700
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Neonatal death, Hydrocephalus, Kyphosis	OMIM:616482
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis	OMIM:618108
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level	ORPHA:652
Leukodystrophy, Hypomyelinating, 13	Ataxia, Optic atrophy, Exaggerated startle response	OMIM:616881
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, Esophageal varix, Gastrointe...	ORPHA:774
Mccune-Albright Syndrome	Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level	ORPHA:562
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Scoliosis, Kyphosis	ORPHA:88628
Harrod Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2115
Schaaf-Yang Syndrome	Scoliosis, Kyphosis	OMIM:615547
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Ataxia	ORPHA:134
Werner Syndrome	Hyperkeratosis, Skin ulcer, Lack of skin elasticity	ORPHA:902
8Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Gastrointestinal hemorrhage, Gastroesophageal reflux, Branchial cyst, Exoc...	ORPHA:508488
Alagille Syndrome 1	Butterfly vertebral arch, Hemivertebrae	OMIM:118450
Marinesco-Sjogren Syndrome	Scoliosis, Kyphosis	OMIM:248800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Fructose Intolerance, Hereditary	Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia	OMIM:605735
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:958
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Umbilical hernia	OMIM:607015
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Nausea and vomiting, Retinal hemorrhage, Erythema...	ORPHA:99827
Gitelman Syndrome	Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc...	ORPHA:358
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons...	ORPHA:3463
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis	OMIM:300354
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98853
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Emanuel Syndrome	Intrauterine growth retardation, Hydrocephalus, Scoliosis, Kyphosis, Sacral dimple	OMIM:609029
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Dystonia, Resting tremor, Akinesia	ORPHA:411602
3C Syndrome	Short neck, Hydrocephalus, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:7
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:617190
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hyperbilirubinemia, Optic atrophy, Hypocalcemia	OMIM:259720
Mucopolysaccharidosis Type 6	Short neck, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Oral leukoplakia, Esophageal stricture	OMIM:613990
Distal Triplication 15Q	Intrauterine growth retardation, Syringomyelia, Hydrocephalus, Scoliosis, Kyphosis	ORPHA:314588
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypophosphatemia, Hypocalcemia, Tremor	ORPHA:667
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Alstrom Syndrome	Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Att...	OMIM:203800
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Scoliosis, Kyphosis	OMIM:301041
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Skin vesicle, Skin ulcer	ORPHA:2314
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Protracted diarrhea, Hypoac...	ORPHA:100080
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Restrictive Dermopathy 1	Scaling skin, Epidermal hyperkeratosis	OMIM:275210
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Dent Disease	Renal hypophosphatemia, Glycosuria, Elevated circulating creatine kinase concentration	ORPHA:1652
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Subungual hyperkeratosis, Dry skin, Follicular hyperkeratosis, Scaling skin, Hyperkeratosis, Peri...	OMIM:308205
Mucopolysaccharidosis, Type Ii	Umbilical hernia, Cervical cord compression, Short neck, Hydrocephalus, Kyphosis	OMIM:309900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Scoliosis, Kyphosis	OMIM:619951
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Dystonia, Exaggerated startle response	ORPHA:309246
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response	OMIM:618056
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Dystonia, Akinesia, Hand tremor	OMIM:618947
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff...	ORPHA:71272
Trisomy 13	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3378
Pelizaeus-Merzbacher Disease	Scoliosis, Kyphosis	ORPHA:702
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Gait imbalance, Glucose intolerance, Hypercalcemia, Diabetes mellitus	OMIM:194050
Dend Syndrome	Elevated hemoglobin A1c, Hyperglycemia	ORPHA:79134
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor	OMIM:601104
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:254346
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ...	ORPHA:449291
Gaucher Disease, Perinatal Lethal	Opisthotonus, Akinesia	OMIM:608013
Cockayne Syndrome Type 2	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:90322
Supranuclear Palsy, Progressive, 2	Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia	OMIM:609454
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Ascites, Feeding difficulties, Oligohydr...	ORPHA:731
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Malabsorption, Nausea and v...	ORPHA:565
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Ataxia	ORPHA:31826
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis	OMIM:608776
Hurler Syndrome	Hypoplasia of the odontoid process, Umbilical hernia, Biconcave vertebral bodies, Short neck, C1-...	OMIM:607014
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Exstrophy-Epispadias Complex	Anal stenosis, Abnormality of the gastrointestinal tract, Hydrocephalus, Spina bifida, Abnormalit...	ORPHA:322
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Hypercholesterolemia	ORPHA:90065
Stiff-Person Syndrome	Opisthotonus, Diabetes mellitus, Exaggerated startle response	OMIM:184850
Marden-Walker Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	OMIM:248700
Acute Liver Failure	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Vomiting, Abnormal bleeding, Bruising suscept...	ORPHA:90062
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Portal hypertension, Neonatal death, Esophageal varix, Hematemesis, Hypertension...	OMIM:263200
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis	OMIM:618443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Raine Syndrome	Hypophosphatemia	OMIM:259775
Cowden Syndrome 5	Palmoplantar hyperkeratosis, Scoliosis, Kyphosis	OMIM:615108
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Woodhouse-Sakati Syndrome	Scaling skin	ORPHA:3464
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Dpagt1-Cdg	Optic atrophy, Inability to walk, Akinesia, Diffuse optic disc pallor, Tremor, Rod-cone dystrophy...	ORPHA:86309
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies	OMIM:219090
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,...	ORPHA:2785
Velocardiofacial Syndrome	Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception	OMIM:112200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short palpebral fissure, Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, Gastrost...	ORPHA:96334
Insensitivity To Pain, Congenital, With Anhidrosis	Acral ulceration, Self-mutilation, Hyperactivity	OMIM:256800
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone...	ORPHA:534
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba...	ORPHA:508533
Rift Valley Fever	Gingival bleeding, Macular edema, Abnormal bleeding, Anorexia, Skin rash, Hematemesis, Melena, Re...	ORPHA:319251
Incontinentia Pigmenti	Erythema, Attention deficit hyperactivity disorder, Hyperkeratosis, Skin ulcer	ORPHA:464
X-Linked Intellectual Disability Due To Gria3 Mutations	Scoliosis, Kyphosis	ORPHA:364028
Rett Syndrome	Scoliosis, Kyphosis	OMIM:312750
Gm1 Gangliosidosis	Platyspondyly, Abnormal form of the vertebral bodies, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:354
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Giant Cell Arteritis	Skin ulcer, Anorexia	ORPHA:397
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Hypercholesterolemia, Prolonged prothro...	ORPHA:247598
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Multiple gastric polyps, Abdomi...	OMIM:175200
Caroli Syndrome	Hepatic failure, Conjunctival icterus, Abnormal bleeding, Portal hypertension, Abdominal rigidity...	ORPHA:480520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Epidermal acanthosis, Hyperkeratosis	OMIM:612852
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Increased circulating cortisol level	OMIM:615954
Cowden Syndrome 6	Palmoplantar hyperkeratosis, Scoliosis, Kyphosis	OMIM:615109
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Intrauterine growth retardation, Dural ectasia, Kyphosis	OMIM:616914
Mitchell-Riley Syndrome	Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus	OMIM:615710
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Kyphosis	OMIM:617061
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Hydrocephalus, S...	ORPHA:3042
Koolen-De Vries Syndrome	Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:96169
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Dystonia, Ataxia, Exaggerated startle response	ORPHA:438216
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Livedoid Vasculopathy	Macular purpura, Skin ulcer, Ecchymosis	ORPHA:542643
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum	ORPHA:486
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord...	OMIM:618019
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Sarcoidosis	Hypercalcemia	ORPHA:797
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Micro Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2510
Short Syndrome	Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:269880
Hardikar Syndrome	Hepatic failure, Vomiting, Decreased liver function, Umbilical hernia, Intestinal malrotation, Fe...	OMIM:301068
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Pycnodysostosis	Spondylolysis, Intrauterine growth retardation, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyph...	ORPHA:763
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Jaberi-Elahi Syndrome	Scoliosis, Kyphosis	OMIM:617988
Sotos Syndrome	Neonatal hypoglycemia, Hypercalcemia, Tremor	ORPHA:821
Plague	Inflammation of the large intestine, Diarrhea, Hypotension, Vomiting, Chapped lip, Abnormal bleed...	ORPHA:707
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:500055
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre...	OMIM:259770
Infantile Systemic Hyalinosis	Skin ulcer	ORPHA:2176
Kawasaki Disease	Palmoplantar erythema, Scaling skin on fingertip	ORPHA:2331
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Scorpion Envenomation	Glycosuria, Hyperglycemia, Tremor, Hypokalemia, Increased circulating creatine kinase MB isoform,...	ORPHA:466677
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, Kyphoscoliosis, Hemivertebrae, Scoliosis, Kyphosis	OMIM:301040
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy	OMIM:616393
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia	OMIM:613658
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Sandhoff Disease	Cherry red spot of the macula, Ataxia, Exaggerated startle response	OMIM:268800
Catastrophic Antiphospholipid Syndrome	Skin ulcer	ORPHA:464343
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Dominant Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:231226
Mucolipidosis Iii Alpha/Beta	Kyphosis, Scoliosis, Spondylolisthesis	OMIM:252600
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia	ORPHA:544482
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis	OMIM:211530
Wiskott-Aldrich Syndrome	Gingival bleeding, Epistaxis, Inflammation of the large intestine, Diarrhea, Prolonged bleeding t...	OMIM:301000
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele	OMIM:614424
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Koolen-De Vries Syndrome	Intrauterine growth retardation, Spondylolisthesis, Vertebral fusion, Scoliosis, Kyphosis, Sacral...	OMIM:610443
Alexander Disease	Short neck, Hyperlordosis, Hydrocephalus, Aqueductal stenosis, Scoliosis, Kyphosis	ORPHA:58
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Hypoasparaginemia, Tremor, Exaggerated startle response	OMIM:615574
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:2479
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:617602
Cowden Syndrome 1	Palmoplantar hyperkeratosis, Scoliosis, Kyphosis	OMIM:158350
Hereditary Acrokeratotic Poikiloderma	Erythema, Palmoplantar hyperkeratosis, Skin ulcer	ORPHA:2907
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Parakeratosis, Epidermal acanthosis, Hyperkeratosis	OMIM:308050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:192
Monosomy 9Q22.3	Abnormality of the vertebral column, Umbilical hernia, Short neck, Hydrocephalus, Kyphosis	ORPHA:77301
Campomelic Dysplasia	Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae	ORPHA:140
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
X-Linked Intellectual Disability, Cabezas Type	Short neck, Scoliosis, Kyphosis	ORPHA:85293
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis	OMIM:616449
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Kyphosis	OMIM:618493
Ramon Syndrome	Scoliosis, Kyphosis, Hyperkeratosis	OMIM:266270
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Umbilical hernia, Short neck, Thoracolumbar scoliosis, Sco...	OMIM:265000
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Intrauterine growth retardation, Prominent protruding coccyx, Short neck, Prominent coccyx, Scoli...	OMIM:300966
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Recurrent i...	ORPHA:508
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Poland Syndrome	Encephalocele, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Sc...	ORPHA:2911
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Chime Syndrome	Erythema, Hyperkeratosis, Skin ulcer	ORPHA:3474
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Dyskeratosis Congenita	Skin vesicle, Palmoplantar keratoderma, Skin ulcer	ORPHA:1775
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Beta-Thalassemia Major	Pallor, Skin ulcer	ORPHA:231214
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Retinopathy, Ataxia	ORPHA:99885
Cranioectodermal Dysplasia 1	Hypocalcemia, Retinal dystrophy	OMIM:218330
2P15P16.1 Microdeletion Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:261349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Communicating hydrocephalus, Scoliosis, Hyperlordosis	OMIM:617011
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ataxia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy, Hypertyrosinemia	OMIM:124000
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Exaggerated startle response	OMIM:617301
Multiple Pterygium-Malignant Hyperthermia Syndrome	Scoliosis, Kyphosis	ORPHA:2215
Dermatomyositis	Erythema, Skin ulcer, V-sign, Dry skin, Facial erythema, Dysphagia, Palmar hyperkeratosis, Shawl ...	ORPHA:221
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Umbilical hernia, Cervical cord com...	OMIM:602535
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Scoliosis, Kyphosis, Hemivertebrae	OMIM:618223
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Classical-Like Ehlers-Danlos Syndrome Type 2	Umbilical hernia, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Sacral dimple	ORPHA:536532
Noonan Syndrome 14	Short neck, Kyphosis	OMIM:619745
2Q31.1 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:251014
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Skin ulcer, Agitation	OMIM:615688
Coffin-Siris Syndrome 1	Umbilical hernia, Intestinal malrotation, Downslanted palpebral fissures, Long eyelashes, Thick e...	OMIM:135900
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Downslanted palpebral fissures, Duodenal polyposis, Hepatoblastoma, Adenomat...	ORPHA:261584
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Feeding difficulties, Ecchymosis, Spontaneous, recurrent epistaxis, Ptosis, Pulmonary arterial hy...	ORPHA:2072
Hajdu-Cheney Syndrome	Hypoplastic 5th lumbar vertebrae, Umbilical hernia, Biconcave vertebral bodies, Syringomyelia, Sh...	ORPHA:955
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Pgm3-Cdg	Skin ulcer	ORPHA:443811
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Tethered cord, Abnormality of the vertebral column, Abnormal form ...	ORPHA:280
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Hydrocephalus, Scoliosis,...	ORPHA:2461
Hereditary Elliptocytosis	Skin ulcer	ORPHA:288
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Exaggerated startle response	OMIM:617281
Cohen Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:193
Immunodeficiency 82 With Systemic Inflammation	Intractable diarrhea, Diarrhea, Anoperineal fistula, Pustular rash, Vomiting, Villous atrophy, Re...	OMIM:619381
Weaver Syndrome	Scoliosis, Kyphosis, Umbilical hernia	OMIM:277590
Granulomatosis With Polyangiitis	Skin ulcer	OMIM:608710
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Dystonia, Hypocalcemia, Optic nerve hypoplasia	OMIM:620330
Schwartz-Jampel Syndrome	Platyspondyly, Umbilical hernia, Abnormally straight spine, Short neck, Hyperlordosis, Scoliosis,...	ORPHA:800
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
African Trypanosomiasis	Difficulty walking, Akinesia, Abnormality of circulating cortisol level, Tremor, Optic neuritis, ...	ORPHA:3385
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Feeding difficulties, Abnormal gastrointestinal t...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Feeding difficulties, Abnormal gastrointestinal t...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Feeding difficulties, Abnormal gastrointestinal t...	ORPHA:93924
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Feeding difficulties, Abnormal gastrointestinal t...	ORPHA:220386
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Dystonia, Exaggerated startle response	ORPHA:521426
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis	ORPHA:1969
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Spondyloenchondrodysplasia	Platyspondyly, Kyphosis	ORPHA:1855
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:619005
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Post-partum hemorrhage, Oral cavity bleeding, Melena	ORPHA:98870
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Hypertension, Gastric ulcer	OMIM:208060
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin...	ORPHA:79474
Malakoplakia	Skin ulcer	ORPHA:556
Amoebiasis Due To Free-Living Amoebae	Restlessness, Skin ulcer	ORPHA:68
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia	OMIM:609069
Fusariosis	Skin ulcer	ORPHA:228119
Cdags Syndrome	Kyphosis	OMIM:603116
Intellectual Developmental Disorder, X-Linked 112	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Yellow Fever	Diarrhea, Vomiting, Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Skin ra...	ORPHA:99829
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Sweet Syndrome	Pyoderma gangrenosum, Skin vesicle	ORPHA:3243
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Exaggerated startle response	OMIM:617527
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Autosomal Recessive Robinow Syndrome	Umbilical hernia, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:1507
Isolated Sedoheptulokinase Deficiency	Steatorrhea, Postprandial hyperglycemia	ORPHA:440713
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response	ORPHA:79255
Robinow Syndrome, Autosomal Dominant 3	Short neck, Scoliosis, Kyphosis, Sacral dimple	OMIM:616894
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperglycemia, Hyperammonemia, Tremor, Dysmetria, Ataxia, Truncal ataxia, Dystonia	OMIM:220111
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis	ORPHA:464738
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Frank-Ter Haar Syndrome	Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis, Gastric hypertrophy, Gastric ulcer	OMIM:161700
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Communicating hydrocephalus, Kyphosis, Kyphoscoliosis	ORPHA:457359
Congenital Tracheal Stenosis	Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Oligohydramni...	ORPHA:141127
Prader-Willi Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:176270
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:464311
Blau Syndrome	Skin ulcer	OMIM:186580
Congenital Disorder Of Glycosylation, Type Ia	Kyphosis	OMIM:212065
Cleidocranial Dysplasia 1	Spondylolysis, Spondylolisthesis, Syringomyelia, Scoliosis, Kyphosis	OMIM:119600
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Kyphosis	ORPHA:398069
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Gastrointestinal telangiectasia, Intestinal bleeding, Oral leukoplakia, Retinal telangiectasia	OMIM:612199
Mend Syndrome	Hydrocephalus, Kyphosis, Sacral dimple	ORPHA:401973
Atelis Syndrome 2	Kyphosis, Sacral dimple	OMIM:620185
Mend Syndrome	Hydrocephalus, Kyphosis, Sacral dimple	OMIM:300960
Chronic Graft Versus Host Disease	Erythema, Skin ulcer, Skin vesicle, Anorexia, Dysphagia	ORPHA:99921
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Dyrk1A-Related Intellectual Disability Syndrome	Abnormality of the cervical spine, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:464306
Smith-Lemli-Opitz Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Short neck, Holoprosencep...	ORPHA:818
Schinzel-Giedion Syndrome	Anteriorly placed anus, Umbilical hernia, Gastrostomy tube feeding in infancy, Aganglionic megaco...	ORPHA:798
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Occipital encephalocele	ORPHA:397715
Cushing Disease	Striae distensae, Purpura, Skin ulcer, Ecchymosis	ORPHA:96253
Leprosy	Hyperkeratosis, Acral ulceration, Penetrating foot ulcers	ORPHA:548
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling	ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 73	Lumbar hyperlordosis, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis	OMIM:620450
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Scoliosis, Kyphosis	OMIM:208400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperglycemia, Hyperlipidemia	ORPHA:293987
Marfan Syndrome	Dural ectasia, Spondylolisthesis, Meningocele, Scoliosis, Kyphosis	ORPHA:558
Cowden Syndrome	Palmoplantar keratoderma, Scoliosis, Kyphosis, Generalized hyperkeratosis	ORPHA:201
Primary Sjögren Syndrome	Dry skin, Purpura, Skin ulcer	ORPHA:289390
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Wolf-Hirschhorn Syndrome	Tethered cord, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Hydrocepha...	OMIM:194190
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Scoliosis, Kyphosis	OMIM:619194
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Mucolipidosis Type Ii	Kyphosis, Umbilical hernia	ORPHA:576
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2658
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Head-banging, Bruxism, Hair-pulling, Aggressive behavior, S...	ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Broad-based gait, Inability to walk, Exaggerated startl...	ORPHA:438213
Cockayne Syndrome B	Normal pressure hydrocephalus, Intrauterine growth retardation, Kyphosis	OMIM:133540
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Bardet-Biedl Syndrome	Insulin resistance, Ataxia, Decreased HDL cholesterol concentration, Impaired fasting glucose, Ty...	ORPHA:110
Cockayne Syndrome A	Normal pressure hydrocephalus, Intrauterine growth retardation, Kyphosis	OMIM:216400
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Blau Syndrome	Erythema, Skin ulcer, Dry skin	ORPHA:90340
Zttk Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Hemivertebrae	OMIM:617140
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Kyphoscoliosis	ORPHA:3063
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Lathosterolosis	Meningocele	ORPHA:46059
Camurati-Engelmann Disease	Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis	ORPHA:1328
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev...	OMIM:201750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Intrauterine growth retardation, Back pain, Abnormal curvature of the vertebral column, Hydroceph...	OMIM:619475
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Spondylolisthesis, S...	ORPHA:828
Charge Syndrome	Hypocalcemia, Retinal coloboma	OMIM:214800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Hyperkeratosis...	ORPHA:2273
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis	ORPHA:252183
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Intrauterine growth retardation, Scoliosis, Kyphosis, Sacral dimple	ORPHA:268261
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Cockayne Syndrome Type 3	Scoliosis, Kyphosis	ORPHA:90324
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Cushing Syndrome Due To Ectopic Acth Secretion	Skin ulcer, Striae distensae, Ecchymosis, Anorexia, Purpura	ORPHA:99889
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Diabetes mellitus, Increased VLDL cholesterol concen...	OMIM:243800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acral ulceration	OMIM:256810
Orofaciodigital Syndrome Vi	Occipital meningocele	OMIM:277170
Wrinkly Skin Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Umbilical hernia	OMIM:278250
Neurofibromatosis Type 1	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:636
Phocomelia, Schinzel Type	Meningocele	ORPHA:2879
17Q11 Microdeletion Syndrome	Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Intrauter...	ORPHA:97685
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Scoliosis, Kyphosis	OMIM:309000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Cockayne Syndrome	Scoliosis, Kyphosis	ORPHA:191
Proteus Syndrome	Abnormal form of the vertebral bodies, Generalized hyperkeratosis, Sirenomelia, Scoliosis, Kyphosis	ORPHA:744
Coffin-Lowry Syndrome	Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Monosomy 22Q13.3	Bruxism, Hyperactivity, Hair-pulling	ORPHA:48652
1P36 Deletion Syndrome	Scoliosis, Spinal canal stenosis, Kyphosis	ORPHA:1606
Acromegaly	Spinal canal stenosis, Kyphosis	ORPHA:963
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Occipital meningocele	OMIM:267750
Somatomammotropinoma	Spinal canal stenosis, Kyphosis	ORPHA:314769
Turner Syndrome Due To Structural X Chromosome Anomalies	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:881
Cornelia De Lange Syndrome 6	Compulsive behaviors, Hair-pulling	OMIM:620568
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Short neck, Hyperlordosis, Kyphosis	OMIM:113620
Arima Syndrome	Occipital meningocele	OMIM:243910
Holoprosencephaly 9	Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus	OMIM:610829
Viss Syndrome	Scoliosis, Butterfly vertebrae, Kyphosis, Umbilical hernia	OMIM:619472
Primrose Syndrome	Posterior scalloping of vertebral bodies, Kyphosis, Irregular vertebral endplates	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Yunis-Varon Syndrome	Intrauterine growth retardation, Palmoplantar hyperkeratosis, Kyphosis, Anterior concavity of tho...	OMIM:216340
Leukocyte Adhesion Deficiency	Pyoderma gangrenosum	ORPHA:2968
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	OMIM:276820
Alström Syndrome	Lumbar scoliosis, Kyphosis, Thoracic scoliosis	ORPHA:64

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 Grhl3

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 Grhl3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cytoplasmic localization of GRHL3 upon epidermal differentiation triggers cell shape change for epithelial morphogenesis.	Nature communications (October 2018)	Grhl3^{tm1a(EUCOMM)Wtsi}	PMC6170465

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
Grhl3^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Grhl3^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Grhl3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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