| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 21 (29.2%) |
2308157 |
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. J Med Genet. 1990;27(1):59-63. |
| Microphthalmia Orbital cyst | ||
| Corneal Opacity Erythema Females Homo sapiens Infant, Newborn Microphthalmos Sex Chromosomes Skin Abnormalities Syndrome X Chromosome | ||
| 22 (27.8%) |
28729805 (5502577) |
Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). Chen AY, Chen K. Eur J Dent. 2017;11(2):264-267. |
| Hypodontia | ||
| 22 (27.8%) |
27602400 (5006834) |
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. Rafatjoo R, Taghdisi Kashani A. J Dent (Shiraz). 2016;17(3):233-7. |
| Hypodontia | ||
| IKBKG | ||
| 22 (27.8%) |
23119137 (3484832) |
Abnormal dentition in a boy with incontinentia pigmenti: case report. Afshar H, Daneshpazhooh M, Kiani A, Aref P, Baniameri Z. J Dent (Tehran). 2012;9(3):267-70. |
| Strabismus Hypodontia | ||
| 22 (27.8%) |
19946534 (2783057) |
Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report. Kitakawa D, Fontes PC, Magalhaes FA, Almeida JD, Cabral LA. J Med Case Rep. 2009;3:116. |
| Hypodontia | ||
| IKBKG | ||
| 22 (27.8%) |
18222329 |
A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway. Chang TT, Behshad R, Brodell RT, Gilliam AC. J Am Acad Dermatol. 2008;58(2):316-20. |
| Conical tooth | ||
| IKBKG NFKB1 | ||
| Ectodermal Dysplasia Homo sapiens Infant Male X-Linked Combined Immunodeficiency Diseases | ||
| 22 (27.8%) |
16037833 |
Dental anomalies in two patients with incontinentia pigmenti. Wu HP, Wang YL, Chang HH, Huang GF, Guo MK. J Formos Med Assoc. 2005;104(6):427-30. |
| Hypodontia | ||
| Child Chromosomes, Human, X Females Homo sapiens Tooth Abnormalities | ||
| 22 (27.8%) |
14719744 |
Orthodontic and orthopedic treatment of a patient with incontinentia pigmenti. Doruk C, Bicakci AA, Babacan H. Angle Orthod. 2003;73(6):763-8. |
| Microdontia | ||
| IKBKG | ||
| Females Homo sapiens Malocclusion Palatal Expansion Technique Patient Care Planning Tooth Abnormalities Tooth Movement Techniques | ||
| 22 (27.8%) |
10815588 |
Incontinentia pigmenti: seven cases with dental manifestations. Macey-Dare LV, Goodman JR. Int J Paediatr Dent. 1999;9(4):293-7. |
| Microdontia | ||
| IKBKG | ||
| Child Child, Preschool Females Homo sapiens Infant Odontometry Tooth Abnormalities | ||
| 22 (27.8%) |
10476362 |
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case. Welbury TA, Welbury RR. ASDC J Dent Child. 1999;66(3):213-5, 155. |
| Hypodontia | ||
| Child, Preschool Females Homo sapiens Infant Tooth Abnormalities |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000988 | Skin rash | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001597 | Abnormality of the nail | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0100585 | Telangiectasia of the skin | Very frequent (99-80%) |
| HP:0200043 | Verrucae | Very frequent (99-80%) |
| HP:0000202 | Oral cleft | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000962 | Hyperkeratosis | Frequent (79-30%) |
| HP:0000975 | Hyperhidrosis | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001880 | Eosinophilia | Frequent (79-30%) |
| HP:0002558 | Supernumerary nipple | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002797 | Osteolysis | Frequent (79-30%) |
| HP:0004097 | Deviation of finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005815 | Supernumerary ribs | Frequent (79-30%) |
| HP:0005922 | Abnormal hand morphology | Frequent (79-30%) |
| HP:0006482 | Abnormality of dental morphology | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0100555 | Asymmetric growth | Frequent (79-30%) |
| HP:0200042 | Skin ulcer | Frequent (79-30%) |
| HP:0000491 | Keratitis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000532 | Abnormal chorioretinal morphology | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000554 | Uveitis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000573 | Retinal hemorrhage | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0001810 | Dystrophic toenail | Occasional (29-5%) |
| HP:0001821 | Broad nail | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002383 | Encephalitis | Occasional (29-5%) |
| HP:0002637 | Cerebral ischemia | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0004050 | Absent hand | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007850 | Retinal vascular proliferation | Occasional (29-5%) |
| HP:0008388 | Abnormal toenail morphology | Occasional (29-5%) |
| HP:0008402 | Ridged fingernail | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 88
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000488 | Retinopathy | 13 |
| HP:0001250 | Seizures | 10 |
| HP:0001880 | Eosinophilia | 6 |
| HP:0002721 | Immunodeficiency | 6 |
| HP:0000541 | Retinal detachment | 5 |
| HP:0001298 | Encephalopathy | 5 |
| HP:0010816 | Epidermal nevus | 5 |
| HP:0000822 | Hypertension | 3 |
| HP:0000618 | Blindness | 2 |
| HP:0000639 | Nystagmus | 2 |
| HP:0001028 | Hemangioma | 2 |
| HP:0001269 | Hemiparesis | 2 |
| HP:0001297 | Stroke | 2 |
| HP:0001945 | Fever | 2 |
| HP:0002084 | Encephalocele | 2 |
| HP:0002140 | Ischemic stroke | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0008052 | Retinal fold | 2 |
| HP:0008404 | Nail dystrophy | 2 |
| HP:0010783 | Erythema | 2 |
| HP:0011002 | Osteopetrosis | 2 |
| HP:0031525 | Keratoacanthoma | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0100699 | Scarring | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000555 | Leukocoria | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000607 | Periorbital wrinkles | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000951 | Abnormality of the skin | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001022 | Albinism | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002718 | Recurrent bacterial infections | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0003155 | Elevated alkaline phosphatase | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0005593 | Macular hypopigmented whorls, streaks, and patches | 1 |
| HP:0005602 | Progressive vitiligo | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0007535 | Hypopigmented streaks | 1 |
| HP:0007546 | Linear hyperpigmentation | 1 |
| HP:0007894 | Hypopigmentation of the fundus | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0007973 | Retinal dysplasia | 1 |
| HP:0008392 | Subungual hyperkeratosis | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0009915 | Corneal asymmetry | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0012387 | Bronchitis | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030906 | Suck reflex | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0032101 | Unusual infection | 1 |
| HP:0032282 | Contact dermatitis | 1 |
| HP:0040238 | Impaired neutrophil chemotaxis | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100786 | Hypersomnia | 1 |
| HP:0200034 | Papule | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |
| HP:0500041 | Myopic astigmatism | 1 |